ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as not provided

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Gene type:
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Total variants: 110
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HGVS dbSNP
NM_000330.3(RS1):c.185-1G>C rs281865344
NM_000330.3(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.3(RS1):c.194del (p.Tyr65fs) rs62645893
NM_000330.3(RS1):c.208G>C (p.Gly70Arg) rs62645894
NM_000330.3(RS1):c.209G>A (p.Gly70Asp) rs62645895
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) rs104894928
NM_000330.3(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.3(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.3(RS1):c.217T>C (p.Ser73Pro) rs62645899
NM_000330.3(RS1):c.219del (p.Glu75fs) rs62645900
NM_000330.3(RS1):c.221G>T (p.Gly74Val) rs104894933
NM_000330.3(RS1):c.223G>T (p.Glu75Ter) rs62641252
NM_000330.3(RS1):c.242T>A (p.Ile81Asn) rs61750457
NM_000330.3(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.3(RS1):c.262C>T (p.Gln88Ter) rs61750459
NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.3(RS1):c.267T>A (p.Tyr89Ter) rs61752061
NM_000330.3(RS1):c.276G>C (p.Trp92Cys) rs61752062
NM_000330.3(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.3(RS1):c.288G>A (p.Trp96Ter) rs61752064
NM_000330.3(RS1):c.293C>A (p.Ala98Glu) rs61752065
NM_000330.3(RS1):c.301G>C (p.Ala101Pro) rs61752066
NM_000330.3(RS1):c.301del (p.Ala101fs) rs63465862
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) rs61752067
NM_000330.3(RS1):c.305G>A (p.Arg102Gln) rs61752068
NM_000330.3(RS1):c.308T>G (p.Leu103Arg) rs61752069
NM_000330.3(RS1):c.312C>G (p.Asn104Lys) rs61752070
NM_000330.3(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.3(RS1):c.323T>G (p.Phe108Cys) rs61752072
NM_000330.3(RS1):c.325G>C (p.Gly109Arg) rs104894934
NM_000330.3(RS1):c.325G>T (p.Gly109Trp) rs104894934
NM_000330.3(RS1):c.326+1G>A rs281865346
NM_000330.3(RS1):c.326G>A (p.Gly109Glu) rs281865345
NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) rs61752075
NM_000330.3(RS1):c.330T>A (p.Cys110Ter) rs1801161
NM_000330.3(RS1):c.330T>C (p.Cys110=) rs1801161
NM_000330.3(RS1):c.336G>C (p.Trp112Cys) rs61752144
NM_000330.3(RS1):c.336G>T (p.Trp112Cys) rs61752144
NM_000330.3(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.3(RS1):c.349_350insT (p.Gln117fs) rs61752146
NM_000330.3(RS1):c.366G>C (p.Trp122Cys) rs61752147
NM_000330.3(RS1):c.371_374AGAT[1] (p.Ile125_Asp126insTer) rs61752148
NM_000330.3(RS1):c.380T>C (p.Leu127Pro) rs61752149
NM_000330.3(RS1):c.392_393del (p.Lys131fs) rs281865347
NM_000330.3(RS1):c.397A>T (p.Ile133Phe) rs61752151
NM_000330.3(RS1):c.404G>T (p.Gly135Val) rs61752152
NM_000330.3(RS1):c.407T>C (p.Ile136Thr) rs61752153
NM_000330.3(RS1):c.412A>G (p.Thr138Ala) rs61752154
NM_000330.3(RS1):c.416del (p.Gln139fs) rs61752155
NM_000330.3(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.3(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000330.3(RS1):c.421C>G (p.Arg141Gly) rs61752158
NM_000330.3(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.3(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.3(RS1):c.424_425TG[1] (p.Cys142_Asp143delinsTer) rs61753160
NM_000330.3(RS1):c.426T>C (p.Cys142=) rs1800001
NM_000330.3(RS1):c.426T>G (p.Cys142Trp) rs1800001
NM_000330.3(RS1):c.428A>T (p.Asp143Val) rs61753161
NM_000330.3(RS1):c.436G>A (p.Glu146Lys) rs61753162
NM_000330.3(RS1):c.438G>C (p.Glu146Asp) rs61753163
NM_000330.3(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.3(RS1):c.464A>G (p.Tyr155Cys) rs61753165
NM_000330.3(RS1):c.472G>A (p.Asp158Asn) rs1800002
NM_000330.3(RS1):c.489G>A (p.Trp163Ter) rs61753166
NM_000330.3(RS1):c.489G>T (p.Trp163Cys) rs61753166
NM_000330.3(RS1):c.499A>T (p.Lys167Ter) rs61753167
NM_000330.3(RS1):c.501G>C (p.Lys167Asn) rs61753168
NM_000330.3(RS1):c.522+1G>A rs281865348
NM_000330.3(RS1):c.522+1G>T rs281865348
NM_000330.3(RS1):c.522+5G>A rs200074383
NM_000330.3(RS1):c.523-2A>G rs281865349
NM_000330.3(RS1):c.533G>A (p.Gly178Asp) rs61753169
NM_000330.3(RS1):c.535A>G (p.Asn179Asp) rs61753170
NM_000330.3(RS1):c.544C>T (p.Arg182Cys) rs61753171
NM_000330.3(RS1):c.548_549dup (p.Ser184fs) rs61753172
NM_000330.3(RS1):c.554C>T (p.Thr185Met) rs61753173
NM_000330.3(RS1):c.574C>A (p.Pro192Thr) rs61753174
NM_000330.3(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.3(RS1):c.575C>G (p.Pro192Arg) rs61753175
NM_000330.3(RS1):c.576_577insT (p.Pro193fs) rs281865350
NM_000330.3(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.3(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.3(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.3(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.3(RS1):c.590G>A (p.Arg197His) rs281865355
NM_000330.3(RS1):c.590G>C (p.Arg197Pro) rs281865355
NM_000330.3(RS1):c.596T>C (p.Ile199Thr) rs281865356
NM_000330.3(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.3(RS1):c.599G>A (p.Arg200His) rs281865358
NM_000330.3(RS1):c.606C>T (p.Ile202=) rs1800003
NM_000330.3(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.3(RS1):c.618G>A (p.Trp206Ter) rs281865359
NM_000330.3(RS1):c.621C>G (p.His207Gln) rs281865360
NM_000330.3(RS1):c.625C>G (p.Arg209Gly) rs281865361
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.3(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000330.3(RS1):c.631G>A (p.Ala211Thr) rs281865363
NM_000330.3(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.3(RS1):c.638G>A (p.Arg213Gln) rs281865364
NM_000330.3(RS1):c.639del (p.Met214fs) rs281865366
NM_000330.3(RS1):c.643G>A (p.Glu215Lys) rs281865367
NM_000330.3(RS1):c.643G>C (p.Glu215Gln) rs281865367
NM_000330.3(RS1):c.647T>C (p.Leu216Pro) rs281865368
NM_000330.3(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.3(RS1):c.655T>G (p.Cys219Gly) rs281865369
NM_000330.3(RS1):c.655_*4del rs281865371
NM_000330.3(RS1):c.655del (p.Cys219fs) rs281865370
NM_000330.3(RS1):c.666G>C (p.Lys222Asn) rs1800004
NM_003159.2(CDKL5):c.3003C>G (p.His1001Gln) rs36022183
NM_003159.2(CDKL5):c.3084G>C (p.Thr1028=) rs139155110

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